维斯科特-奥尔德里奇综合征与人类X染色体多态性DNA序列的连锁关系。

Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.

作者信息

Peacocke M, Siminovitch K A

出版信息

Proc Natl Acad Sci U S A. 1987 May;84(10):3430-3. doi: 10.1073/pnas.84.10.3430.

DOI:10.1073/pnas.84.10.3430

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC304884/

Abstract

The Wiskott-Aldrich syndrome (WAS) is one of several human immunodeficiency diseases inherited as an X-linked trait. The location of WAS on the X chromosome is unknown. We have studied 10 kindreds segregating for WAS for linkage with cloned, polymorphic DNA markers and have demonstrated significant linkage between WAS and two loci, DXS14 and DXS7, that map to the proximal short arm of the X chromosome. Maximal logarithm of odds (lod scores) for WAS-DXS14 and WAS-DXS7 were 4.29 (at theta = 0.03) and 4.12 (at theta = 0.00), respectively. Linkage data between WAS and six marker loci indicate the order of the loci to be (DXYS1-DXS1)-WAS-DXS14-DXS7-(DXS84-OTC). These results suggest that the WAS locus lies within the pericentric region of the X chromosome and provide an initial step toward identifying the WAS gene and improving the genetic counseling of WAS families.

摘要

威斯科特-奥尔德里奇综合征（WAS）是几种作为X连锁性状遗传的人类免疫缺陷疾病之一。WAS在X染色体上的位置尚不清楚。我们研究了10个与WAS相关的家系，以确定其与克隆的多态性DNA标记的连锁关系，并证明了WAS与两个定位于X染色体短臂近端的位点DXS14和DXS7之间存在显著连锁。WAS-DXS14和WAS-DXS7的最大优势对数（lod值）分别为4.29（在θ=0.03时）和4.12（在θ=0.00时）。WAS与六个标记位点之间的连锁数据表明这些位点的顺序为（DXYS1-DXS1）-WAS-DXS14-DXS7-（DXS84-OTC）。这些结果表明WAS基因座位于X染色体的着丝粒周围区域，并为鉴定WAS基因和改善WAS家系的遗传咨询提供了初步步骤。

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